Incidental Mutation 'R5466:Dnase1l1'
| ID | 433264 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Dnase1l1
|
|---|
| Ensembl Gene |
ENSMUSG00000019088 |
|---|
| Gene Name | deoxyribonuclease 1-like 1 |
|---|
| Synonyms | Dnase1ll, G4.8, Dnl1ll, 2310005K03Rik |
|---|
| MMRRC Submission |
043027-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Probably non essential (E-score: 0.096)
|
|---|
| Stock # | R5466 (G1)
|
|---|
| Quality Score | 222 |
|---|
| Status |
Not validated
|
|---|
| Chromosome | X |
|---|
| Chromosomal Location | 74273217-74282337 bp(-) (GRCm38) |
|---|
| Type of Mutation | critical splice donor site (1 bp from exon) |
|---|
| DNA Base Change (assembly) |
C to T
at 74277038 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113515
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008826]
[ENSMUST00000019232]
[ENSMUST00000074085]
[ENSMUST00000075821]
[ENSMUST00000114189]
[ENSMUST00000119361]
[ENSMUST00000151702]
[ENSMUST00000135690]
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008826
|
|---|
| SMART Domains |
Protein: ENSMUSP00000008826
Gene: ENSMUSG00000008682
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L16
|
5 |
167 |
1.1e-34 |
PFAM |
|
|---|
| Predicted Effect |
probably null
Transcript: ENSMUST00000019232
|
|---|
| SMART Domains |
Protein: ENSMUSP00000019232
Gene: ENSMUSG00000019088
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
21 |
289 |
3.93e-149 |
SMART |
|
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074085
|
|---|
| SMART Domains |
Protein: ENSMUSP00000082055
Gene: ENSMUSG00000008682
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L16
|
5 |
167 |
1.1e-34 |
PFAM |
|
|---|
| Predicted Effect |
probably null
Transcript: ENSMUST00000075821
|
|---|
| SMART Domains |
Protein: ENSMUSP00000075218
Gene: ENSMUSG00000019088
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
21 |
289 |
3.93e-149 |
SMART |
|
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083047
|
|---|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114189
|
|---|
| SMART Domains |
Protein: ENSMUSP00000109827
Gene: ENSMUSG00000019088
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DNaseIc
|
21 |
70 |
5e-22 |
BLAST |
|
SCOP:d2dnja_
|
39 |
79 |
2e-4 |
SMART |
|
low complexity region
|
91 |
103 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119361
|
|---|
| SMART Domains |
Protein: ENSMUSP00000113515
Gene: ENSMUSG00000019088
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DNaseIc
|
21 |
64 |
2e-22 |
BLAST |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121868
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125775
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128763
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134330
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135012
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184075
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144434
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148882
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149171
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146584
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146260
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138954
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142142
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151702
|
|---|
| SMART Domains |
Protein: ENSMUSP00000115919
Gene: ENSMUSG00000008682
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L16
|
5 |
167 |
1.5e-34 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135690
|
|---|
| SMART Domains |
Protein: ENSMUSP00000119500
Gene: ENSMUSG00000008682
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L16
|
5 |
150 |
1.2e-20 |
PFAM |
|
|---|
| Meta Mutation Damage Score |
0.9711
|
|---|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.5%
|
|---|
| Validation Efficiency |
|
|---|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a deoxyribonuclease protein that shows high sequence similarity to DNase I. The encoded protein is localized to the endoplasmic reticulum and modified by N-linked glycosylation. Alternate transcriptional splice variants encoding the same protein have been observed. [provided by RefSeq, Jan 2015]
PHENOTYPE: Female mice homozygous for an inactivating mutation of this gene exhibit poor motor coordination on the rotarod even on days 4 and 5 of a 5-day test. [provided by MGI curators]
|
|---|
| Allele List at MGI | |
|---|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
A |
2: 68,711,389 |
A17E |
probably benign |
Het |
| Actc1 |
T |
C |
2: 114,050,498 |
D82G |
probably damaging |
Het |
| Aox1 |
G |
C |
1: 58,041,460 |
E23Q |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 37,996,736 |
V124A |
probably benign |
Het |
| Armc5 |
A |
G |
7: 128,240,164 |
N218S |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,246,714 |
V192E |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,931,083 |
E922V |
unknown |
Het |
| Dennd4b |
G |
A |
3: 90,268,500 |
|
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,771,050 |
D1256G |
probably damaging |
Het |
| Dpy19l1 |
T |
C |
9: 24,414,388 |
E707G |
probably damaging |
Het |
| Farp1 |
C |
T |
14: 121,235,077 |
P208L |
probably damaging |
Het |
| Fgf11 |
T |
C |
11: 69,799,441 |
I107V |
probably damaging |
Het |
| Fuca2 |
C |
T |
10: 13,512,697 |
Q406* |
probably null |
Het |
| Gm10428 |
A |
G |
11: 62,753,106 |
|
probably benign |
Het |
| Gm17430 |
A |
G |
18: 9,726,228 |
V148A |
probably benign |
Het |
| Gm5930 |
A |
T |
14: 44,337,557 |
N57K |
probably damaging |
Het |
| Gucy2c |
T |
A |
6: 136,781,465 |
K48* |
probably null |
Het |
| Ip6k2 |
C |
T |
9: 108,798,462 |
R109C |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,147,525 |
F159I |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,452,865 |
S1981T |
possibly damaging |
Het |
| Mga |
T |
A |
2: 119,902,697 |
L9M |
probably damaging |
Het |
| Mov10l1 |
T |
C |
15: 88,985,701 |
|
probably null |
Het |
| Msrb1 |
A |
T |
17: 24,739,559 |
H39L |
possibly damaging |
Het |
| Olfr1222 |
A |
T |
2: 89,125,133 |
F199L |
probably benign |
Het |
| Olfr449 |
A |
T |
6: 42,838,093 |
T71S |
probably benign |
Het |
| Pcdha1 |
G |
A |
18: 36,932,259 |
A659T |
possibly damaging |
Het |
| Pcm1 |
T |
A |
8: 41,272,462 |
|
probably null |
Het |
| Rfpl4b |
C |
A |
10: 38,821,398 |
C69F |
probably damaging |
Het |
| Tnn |
G |
A |
1: 160,120,536 |
T869I |
possibly damaging |
Het |
| Trp53i11 |
C |
A |
2: 93,199,383 |
L121I |
possibly damaging |
Het |
| Uimc1 |
A |
G |
13: 55,075,848 |
S204P |
probably damaging |
Het |
| Usp43 |
A |
T |
11: 67,913,883 |
N169K |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,239,843 |
|
probably null |
Het |
| Vmn2r115 |
A |
G |
17: 23,360,056 |
I834M |
probably damaging |
Het |
| Zbtb21 |
A |
G |
16: 97,950,498 |
S690P |
possibly damaging |
Het |
| Zfp703 |
C |
T |
8: 26,979,205 |
P299L |
probably damaging |
Het |
|
|---|
| Other mutations in Dnase1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R4691:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R4752:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R4753:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R4814:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R4815:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R4846:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R4861:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R4862:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R4872:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R4873:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R4875:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R4978:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R4979:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R4980:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R4981:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R4982:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R4983:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5039:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5084:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5085:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5086:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5087:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5106:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5107:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5108:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5109:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5137:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5171:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5266:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5296:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5330:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5417:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5418:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5419:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5448:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5450:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R5467:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6126:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6128:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6129:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6130:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6232:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6233:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6234:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6242:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6305:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6306:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6329:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6343:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6344:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6396:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6397:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6449:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6450:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6585:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6586:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6646:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6679:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6681:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6845:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R6847:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
R8526:Dnase1l1
|
UTSW |
X |
74277038 |
critical splice donor site |
probably null |
|
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- ATTGGTACCAGAGTGGCTGC -3'
(R):5'- AACCTGGATTCCTTTGGAGG -3'
Sequencing Primer
(F):5'- CAACATCATTCCATTATACCTTACCC -3'
(R):5'- GGTTCCTGATGCACACATAGCAATG -3'
|
|---|
| Posted On | 2016-10-06 |
|---|
